Mike Neufeldt, 25, has been using a ventilator without a tracheostomy tube since he was 15. During the day, he uses a "sip" mouthpiece.
Mike Neufeldt likes his job at motorcycle manufacturer Harley-Davidson's Milwaukee headquarters, where he keeps an eye on dealership Web sites to make sure they meet company standards. After work, he sometimes shares a beer with co-workers, and he's been thinking about how someday he'd like to move out of his parent's house and into a place of his own.
Not exactly unusual for the average 25-year-old, but Neufeldt isn't average. He has Emery-Dreifuss muscular dystrophy with severe muscle weakness requiring a power wheelchair and 24-hour assisted ventilation. Had a few key events taken a different turn, his life would likely be far more limited than it is today.
Adamant about another way
Mike's muscle disorder progressed relatively slowly for many years. But in his early teens, he began to have trouble sleeping at night, was falling asleep in school and was getting headaches. He didn't realize it then, but those are classic signs of impaired breathing muscles and insufficient air exchange, or "underventilation."
|At night, Neufeldt uses nasal pillows with his ventilator.|
Then, one summer day in 1993, he was so tired he decided to take a nap. "When I woke up, I was blue," he remembers. "I had blue lips and blue fingertips."
His parents rushed him to a local hospital, where doctors tried unsuccessfully to stabilize his condition. "I started getting worse, not better, and they felt that I was showing signs of needing a tracheostomy," Neufeldt says. (A tracheostomy [or trach] is a surgical procedure that makes a hole in the windpipe, or trachea, through which a tube is passed that can be attached to a ventilator.)
"My mom was adamant that there had to be another way, something else we could do," Neufeldt recalls. So was the 15-year-old. The doctor was reluctant to allow Mike a voice in the decision, but Carol Neufeldt was adamant about that, too. "I had been making medical decisions all my life," Neufeldt says. His parents respected that.
The doctor acquiesced and suggested that Mike try a newly developed device, a bilevel positive airway pressure machine, with a noninvasive — nontracheostomy — interface.
Pulmonary specialists knew these new arrivals werent as powerful as the ventilators used in hospitals or the ones that went home with tracheostomized patients. But the machines were easy to use, were fairly portable, and seemed sufficient for many people with moderate respiratory muscle weakness.
Life with a BiPAP
The new devices were dubbed "BiPAPs" by one manufacturer, Lifecare, which has since been purchased by Respironics. (The term is a Respironics brand name but has become a generic term for bilevel positive airway pressure devices.)
Neufeldt uses a Respironics PLV-100 volume ventilator, which fits on the back of his power chair.
By the time Neufeldt left the Milwaukee area hospital, he was using a Lifecare BiPAP at night only. He was given an interface (the part where the device meets the user) called "nasal pillows," perforated cushions that fit into the nostrils.
"I was able to breathe a lot better," he says. But after about a year, he felt he was "slowly going downhill." His energy was waning and his activities became more limited.
His pulmonologist told him to extend his BiPAP into some daytime hours, but Mike didn't find that practical. The device, though portable, seemed cumbersome to tote around, especially for a teenager.
Once again, the Neufeldts began to search for alternatives.
A visit to Newark
With help from MDA National Headquarters,Neufeldt and his parents located John Bach, co-director of the MDA clinic in Newark, N.J. Bach is known across the United States and in Europe for his expertise in noninvasive ventilation (NIV) to treat respiratory problems in neuromuscular diseases.
He's been a physician specializing in physical medicine and rehabilitation since 1980, but hes never forgotten his undergraduate studies in engineering.
Bach brings to his patients a strong grasp of physics and engineering principles, as well as medical knowledge. He has a keen interest and a broad background in ventilation history, from the days of "iron lungs" — cylinders that surrounded the patient and applied negative pressure that caused the lungs to inflate — to today's highly portable systems that push pressurized air into the respiratory tract and weigh no more than a laptop computer.
Neufeldt, who served as MDA National Goodwill Ambassador in 1987 and 1988 and is now a member of MDA's National Task Force on Public Awareness, stayed in Newark only a day. But he saw enough to equip him to continue discussions with his physician in Wisconsin.
A stronger vent
Bach didn't recommend that Neufeldt spend more time on the BiPAP or get a tracheostomy interface. Instead, he recommended switching to a different type of ventilator — a volume-cycled device, as opposed to the BiPAP, which is pressure-cycled. Volume vents deliver a set volume with a variable air pressure, whereas pressure vents deliver a set pressure with a variable volume of air. Because of tradition and their historical uses in medicine, volume vents are capable of delivering far greater pressures and volumes than are pressure vents, such as BiPAPs.
Traditionally, though, they've only been used with tracheostomy or endotracheal (down the throat) tubes.
Bach's idea was to use these powerful ventilators with noninvasive interfaces.
A new solution
Armed with the information from Bach's clinic, Neufeldt returned to Milwaukee, where he was fortunate to find his physician a willing partner in the switch to the volume vent. The doctor admitted Neufeldt to the hospital and helped him begin using a PLV-100 volume ventilator without a trach. (The PLV-100 is also a Respironic's device, originally made by Lifecare.)
Neufeldt began using a "sip"-type mouthpiece (the user draws on it like a straw to trigger a full breath from the device) during the day and continued with his nasal pillows at night.
The system worked. Neufeldt went on to graduate from high school and then from Marquette University with a degree in broadcast and electronic communications, and then to begin his work with Harley-Davidson — all while "on a vent."
The trouble with trachs
Bach and a growing number of other physicians are skeptical of tracheostomy tubes, at least for many (not all) people with respiratory muscle weakness as their primary breathing problem.
For Bach, there's only one indication for a trach: the kind of weakness of the mouth and throat (bulbar) muscles seen in amyotrophic lateral sclerosis.
For most people, a system at the back of the throat routes food and liquid down the esophagus and into the stomach and air down the trachea and into the lungs.
But when the muscles or nerves that control such a system aren't working, food and liquids are easily inhaled into the lungs ("aspirated"), causing infection or obstruction, and air taken in through the nose or mouth may end up in the stomach instead of the lungs.
"Once the bulbar muscles are so bad you cant speak or swallow or keep saliva out of your airway, you need to be trached, or youll be in respiratory failure," Bach says. ALS, he says, is the only neuromuscular disease in which that routinely occurs, noting that he hasnt found it necessary to use a trach tube in anyone with Duchenne muscular dystrophy in more than 20 years.
Trachs, Bach notes, lead to dangerous accumulations of mucus in the lungs and interfere with the ability to enjoy eating, tasting and sometimes talking. They also place an enormous burden on caregivers and on the family's finances if they hire assistants.
The main problem with trachs, Bach says, is their interference with the body's normal mechanisms for constantly clearing the respiratory tract of mucus through the action of tiny beating hairs ("cilia") whose job is to move these secretions up and out. To make matters worse, the presence of the tube itself — an unwelcome foreign body in the trachea — causes more than the usual amount of mucus to be produced.
Most trach users are taught that they need "suctioning" — passing a catheter attached to a suction device through the trach tube and down into the airways — to remove mucus many times a day, Bach says.
But, he adds, suctioning itself can push bacteria from the upper airway down into the deeper and normally sterile lung passages, adding to the risk of respiratory infections, including serious pneumonias.
Of course, the need for constant suctioning also requires constant attention — an extremely awkward requirement for trach users going to work or school.
Fortunately, there are ways to avoid excessive suctioning, Bach says.
If trachs must be used, Bach recommends a device called a CoughAssist (made by the J.H. Emerson Company and distributed by Respironics), which can do what suctioning does with less damage to the airways and less discomfort for the patient. CoughAssists are usually used without a trach, but adapters can be purchased that allow the device to fit onto the trach tube. Use of the CoughAssist can reduce, if not eliminate, the need for suctioning.
CoughAssists deliver a large volume of air into the lungs and then quickly reverse the air flow to pull out secretions, just as a cough would.
Skill gap a hazard zone?
Joshua Benditt, director of Respiratory Care Services at the University of Washington Medical Center in Seattle, agrees with Bach that the person who needs a trach is the one whose bulbar muscles are severely weakened.
"If you can't handle your secretions well, and you don't have any strength in your mouth, almost all of the noninvasive interventions, even the nasal or face masks, become quite difficult," Benditt says.
Like Bach, Benditt tries to avoid using trachs whenever possible.
"When the patient is well motivated, noninvasive methods can do incredible things," he says. "I have about 25 Duchenne dystrophy patients, and that's all they use. I haven't trached a Duchenne patient in five years.
"Noninvasive ventilation allows for a much better quality of life. You live longer and you're more independent, and we work really hard on that. In fact, one of the most satisfying things to me is to avoid a trach."
In ALS, he says, he can often ventilate patients with a mouthpiece for a year or two, until bulbar involvement becomes severe.
Edward Oppenheimer, a pulmonary consultant and an associate clinical professor of medicine at the University of California at Los Angeles, sounds a cautionary note.
Oppenheimer, who was in clinical practice for more than 30 years and has treated many patients with ALS and muscular dystrophy requiring ventilation, says, "If you need continuous ventilation, tracheostomy may be a more dependable method." He says the connections in a trach system are generally more secure than they are with noninvasive systems, and the access to the airway to remove secretions is more direct through the trach tube than with NIV interfaces.
He adds that there's a "huge education and skill gap" for doctors and therapists with respect to NIV. More education for professionals is desperately needed in this area, he says. In the meantime, hes concerned that if patients ask doctors to "do something they're not prepared to do, they're going into a hazard zone."
Making a change
Like Mike Neufeldt, Tedde Scharf, now 61, has never let her disability get in her way. As assistant dean of student life at Arizona State University in Tempe, a position she's held for 21 years, she works more than full time despite having almost no voluntary muscle movement and relying on 24-hour assisted ventilation.
Scharf's muscle disease — thought to be a form of limb-girdle muscular dystrophy — progressed gradually throughout her childhood and young adulthood, but by the time she reached her mid-40s, she began having some new problems. She was falling asleep at her desk and at meetings, was "dead tired" all the time and had terrible headaches. Thinking she was just getting older, Scharf tried to press on.
Then, in 1988, she had two bouts of pneumonia five months apart. Scharf's doctors recommended tracheostomy-delivered ventilation, to which, with great reluctance, she agreed.
Cold air and constant care
From the beginning, Scharf intensely disliked the trach. For one thing, it directed cold air into her lungs. Heaters were available, but they had to be plugged in — not a good option for the active user. "During the day, I couldnt be tied down that much," she says.
The constant need for suctioning was even less practical for the busy professional. "If I needed to be suctioned, I had to arrange for attendants to come to the office during the day," she says. "It was a royal pain."
Worst of all, for the first six months, Scharf was unable to speak, something doctors told her she would just have to accept. Remarkably, she continued working, with constant note writing.
Finally, she met David Muir, who had muscular dystrophy and was able to talk despite the presence of a trach tube. As Scharf later learned, Muir was the inventor of the now widely used Passy-Muir speaking valve, a device she obtained, after much persistence, in 1989.
A fortunate encounter
Then, in 1993, another chance meeting would eventually lead to momentous changes for Scharf. That year, while attending a meeting in connection with her service on the MDA Board of Directors, she discovered that rehabilitation specialist John Bach was speaking at a medical conference in the same location.
"I just slipped in the door in the back and listened to him speaking," she says. Bach was presenting his unorthodox ideas on noninvasive ventilation, and he soon had Scharf's full attention.
After the lecture, the doctor approached Scharf directly and asked her why she had a trach. Surprised, she stammered, "I had respiratory failure." Bach told her, "You don't need that thing," and followed up with "a stack of articles" supporting his position.
For the next two years, Scharf tried to convince her insurance company to allow her to see Bach in Newark and to switch to an NIV system. They refused.
At long last, in 1995, Scharf's university changed insurance plans. While the new plan didn't allow her to go to Newark, it did permit her to travel to Texas to see a trusted colleague of Bach's, pulmonologist Joseph Viroslav, at what was then the Dallas Rehabilitation Institute. (Viroslav is now director of pulmonary medicine at St. Paul University Hospital in Dallas.)
So ready to do it
By 1995, Scharf had been on invasive ventilation for seven years. The day she arrived in Dallas, she was ready to have the trach removed.
"I was so ready to do it," she says. But the staff declined, cautioning her that a more gradual conversion to a noninvasive system was necessary.
With the trach tube still in but plugged, Viroslav taught Scharf how to use a pneumobelt (also called an exsufflation belt), an unusual type of noninvasive ventilation that places a corset containing an inflatable bladder around the users midriff. The positive pressure ventilator pumps air into the corsets bladder, which pushes the wearers diaphragm upward, allowing exhalation. When the ventilator cycles to a lower pressure, the diaphragm descends by gravity, causing inhalation.
"I knew that I wanted the pneumobelt," Scharf says. Its lack of visibility (it can be worn under clothes) had appealed to her, and she had gone to Texas hoping to obtain one.
As an additional alternative, Scharf learned to use a mouthpiece, and she obtained a nasal mask for nighttime use. Scharf also learned how to take in a volume of air sufficient to generate a cough ("breath stacking") and how to cough.
"Nobody had ever showed me how to cough until then," she marvels.
Scharf's NIV was delivered by a Lifecare PLV-100, although she later switched to the smaller LTV950 from Pulmonetic Systems. (It's the size of a laptop computer, while the PLV-100 is about the size of a desktop monitor.)
Scharf adapted to her new systems almost immediately.
"I think I was so psychologically ready that I just changed," she says, although she was told that many longtime trach users had a hard time making the switch. "I was ready to go home, but I had plane tickets for leaving in 10 days — so I went to malls and had a good time in Dallas."
Although Bach welcomes any trend that moves physicians away from relying solely on tracheostomy to treat ventilatory failure, he says total dependence on bilevel pressure devices isn't the answer either.
"Some people are using nighttime BiPAP and calling it noninvasive ventilation," he says.
"When you do that, you can't get a deep breath. You may do OK until you get a cold. Then respiratory failure occurs."
Bach only uses BiPAPs for babies and for specific types of adult patients, but he says the devices generally aren't strong enough.
"They're enough to ventilate most people and rest the inspiratory [inhalation] muscles, but they're not strong enough for getting a deep breath to cough with or to maintain lung compliance [suppleness]."
BiPAPs are appealing, he says, because they're small, easy to use, highly portable nowadays and, as ventilators go, relatively inexpensive.
But they're derived from devices meant for people with abnormal breathing patterns during sleep, not severe respiratory muscle weakness, and in his view, they're rarely up to the job they need to do as a neuromuscular disease progresses.
Physicians who aren't familiar with vent options, he says, often recommend either using the BiPAP for more hours of the day or going to trach ventilation once nighttime BiPAP isn't sufficient.
Instead, Bach puts his patients on a volume ventilator and ensures they have a method for clearing secretions.
Benditt has a slight preference for BiPAPs and other pressure-cycled ventilators for nighttime use, because they automatically compensate for air that leaks around the person's nighttime mask or other interface.
"For the individual patient," he says, "a pressure-regulated ventilator might work better at night, with a mask, while you might want to use a volume ventilator during the day."
Bach, however, considers the leak compensation feature of BiPAPs a drawback. He says the increases in air pressure can wake the person several times a night if the device senses a small leak.
He prefers to use a volume vent but to minimize air leaks with good seals.
If theres anything virtually all respiratory care experts agree on, it's the crucial need to clear secretions.
"Most of the time, people with neuromuscular disease don't develop respiratory failure because of an inability to breathe but because of an inability to cough," Bach says. "In Duchenne dystrophy, 90 percent of respiratory failures occur during chest colds, because people can't cough, and they get pneumonia."
There are a variety of methods to ensure a good cough, no matter how weakened the expiratory muscles — the main ones responsible for coughing — and the bulbar muscles may be.
Breath stacking — closing the throat after each breath taken in through a mouthpiece and then coughing — is a good method for those who can manage it, and caregivers can be taught how to increase coughing efficiency by pressing on the abdomen.
For others, the CoughAssist, which delivers a high-volume breath and then quickly reverses to negative pressure through a mask, requires no strength and no ability to close the throat. "It simulates, rather than stimulates, a secretion-clearing cough," Oppenheimer says.
For those using trachs, catheter suctioning or a CoughAssist with a trach adapter can be employed.
People who have the ability to cough well sometimes benefit from devices that "shake up" mucus in the chest and move it up toward the mouth and throat, such as the Vest, an airway clearance system made by Advanced Respiratory. The vest is attached to an air-pulse generator that rapidly inflates and deflates the device up to 20 times per second to create air flow in the lungs.
Oppenheimer is cautious, however. "It shakes stuff around, so its good for cystic fibrosis [a lung disease] patients, who have a good cough," says Oppenheimer. "But if you shake stuff around and then cant get it out, you drown in it, so it has limited application in respiratory care."
The oscillation vest is now being studied for its possible application to neuromuscular disease, and the company is considering adding a cough-assistance feature.
So, how do you know you're not getting enough air before you develop headaches, daytime sleep attacks or pneumonia?
Bach's answer: the oximeter.
Oximeters are electronic devices about the size of a small cell phone that measure the amount of oxygen in the blood through a completely painless sensor that can be clipped to a finger or earlobe. Bach advises his patients to get one and use it as a "biofeedback" monitor if they feel tired or have a cold.
If the oxygen level is normal (at least 95 percent "saturation" is the medical terminology) without any supplemental oxygen, there's a very good chance that air exchange is adequate.
If saturation levels dip below normal, patient and doctor have to decide whether the problem is chronic underventilation because air exchange isn't adequate or whether there's mucus plugging the airways. Either way, steps have to be taken.
Supplemental oxygen (that is, taking in oxygen concentrations of more than the 21 percent thats usual for room air) is a very bad idea in neuromuscular disease for a variety of complex biochemical reasons, Bach says.
But there's also a simple reason not to use it, he cautions: It destroys the value of oximeter readings, offering dangerously false reassurance about the adequacy of air exchange.
Self-management skills are important in any chronic condition, and some people have more ability in this area than others.
Tedde Scharf may have elevated it to an art form. Rising at dawn to begin a full day of meetings, projects and grants administration to help some 1,500 students with disabilities, she says not being afraid and "adapting as you go along" have helped sustain her.
"I think that unless people are consistent with their doctors, they're not likely to get what they want," she says. "Managing your own care takes a certain amount of motivational ability. You have to take responsibility for yourself, but you also have to be willing to ask for help and then manage it."
For vent users, knowing the options and finding doctors willing to explore them can make the difference between just living and really enjoying life.
To make noninvasive ventilation work in neuromuscular disease, you have to become your own best troubleshooter. Here are some common problems. The solutions, based on the principles endorsed by John Bach and others, require the participation of a health care professional well versed in the use of NIV in neuromuscular disease.
PROBLEM: Constant sleepiness, morning headaches, foggy feeling, shortness of breath, low oximeter readings
PROBLEM: Signs of chest infection, such as shortness of breath, fever, malaise, low oximeter readings
PROBLEM: Skin or eye irritation from mask or other interface
PROBLEM: Emergency medical personnel want to administer oxygen in response to signs of respiratory distress.
John Bach's Web site:
Long-Term Mechanical Ventilation,ed. by Nicholas Hill, M.D., Marcel Dekker, 2001.
Noninvasive MechanicalVentilation, ed. by John Bach, M.D., Hanley & Belfus, 2002